Families struggle to cope with Rett syndrome

When her daughter, Maggie, was born, Jessica McGuigan of Auburn, like most mothers, was so happy and relieved when the doctors told her her baby was beautiful and completely normal baby.

At six months, little Maggie would light up a room with her smile and baby babble. Later, she was spoon-feeding herself, and at 16 months, she started saying her first words: mama, dada, light, pretty and dog.

Two months later, the world seemingly turned upside down for the McGuigans, when Maggie had a seizure.

“We weren't sure what was happening. She just stopped breathing. She went completely limp and her eyes rolled to the back of her head,” recalled Ms. McGuigan. “We were on the phone calling 911. I thought she was dying.”

During the next few months, Maggie was taken to Boston Children's Hospital several times where she was given medication to control her seizures and help with her anxiety. But, it wasn't until she was almost three that a team of doctors diagnosed her with Rett syndrome, considered by some to be an autism spectrum disorder. By then Maggie had lost all functional use of her hands and all the words that she had learned.

“It was extremely devastating. When you have a child, you never think of things like that happening to your child,” Ms. McGuigan said. “Coming from a doctor's mouth, especially when there's no cure, it's very difficult to take in and be accepting of.”

Rett syndrome is a unique neurodevelopmental disorder caused by a sporadic mutation in a gene on the X chromosome. It almost exclusively affects girls, but boys may also be affected. The disorder causes a developmental arrest or failure of brain maturation resulting in the inability to program the body to perform motor movements.

Children usually develop normally until between 6 and 18 months, when a slowdown, then regression, of communication skills, purposeful use of hands and other development occur. Generally, the affected child eventually becomes dependent on others for maximum assistance with every aspect of their lives.

Ms. McGuigan, a single mother of two, said she would not have been able to cope without the help of her parents, with whom she lives. She reached out to talk about it to educate others about the disorder and to help raise money to find a cure. Most people know that October is Breast Cancer Awareness Month, but it is also Rett Syndrome Awareness Month.

“The first 18 months, she was completely normal. She was hitting all those milestones: first words, walking, and then, all of a sudden, it's ripped from you. It just stops. It's extremely devastating,” said Ms. McGuigan, 26, a recent Army National Guard enlistee who works overnight at Harrington Hospital in Southbridge.

Jennifer R. Endres, family resource manager of the International Rett Syndrome Foundation, said the worldwide prevalence rate is 1 in every 10,000 live girl births. Every two hours a child is born with Rett syndrome. The IRSF data base includes an estimated 5,070 children with Rett in the world. Because there is better tracking of the disorder in the U.S., about 4,000 of those cases are in this country. That includes approximately 125 girls and one boy in Brookfield, Lancaster, Leominster, Hopedale, Oxford, Shrewsbury, South Grafton, Milford, Auburn and Worcester.

Ms. Endres began working with the IRSF six years ago, after her daughter, Jillian, was diagnosed with Rett syndrome.

“The very exciting thing, and what gives us all as parents hope, is (that) research is happening and it's moving in the right direction,” she said. “As parents, we really can have hope. We just have to keep our girls healthy and stimulated while we're waiting to find these treatments. I have faith there will be help for these girls.”

Many people with Rett are able to learn communication and other skills that help them enjoy life and be more independent. They are able to participate in numerous activities and they show a full range of emotions.

Ms. Endres said despite her daughter being in a wheelchair, relying on a feeding tube and not talking or using her hands, she goes to school, learns, has friends and participates in life.

“It's important for the public to know that even though these girls don't talk, they're in there. They are listening. They hear. They know what's going on and they can learn and they can communicate with their family members and peers if taught correctly. Their minds are working,” she said.

Patrick Courtney of Worcester, whose 9-year-old daughter, Lily, was diagnosed with Rett syndrome at about 17 months, said he still gets angry about how random it was.

“We had no clue this was coming. The randomness is kind of disturbing. She had all the characteristics of her sister, really bright. But it wasn't in the cards. The gene mutation happens at conception,” he said. “We're almost at the point where we're used to it, but I still get angry.”

Mr. Courtney said Lily is in the life skills program at Roosevelt School. Its very time intensive, but he and his wife, Leslie, and their 14-year-old daughter, Ginger, are able to communicate with Lily. When asked a question, she will look at you to answer yes, and look away for no.

She is happy and well-behaved, but she gets spoiled because discipline is very difficult, if not impossible, he said. She's also not incapable of being upset and frustrated.

“When she sees other kids playing and stuff she gets sad and angry,” Mr. Courtney said. “It's hard as a parent. We're still trying to get used to kids her age having a good time.”

Lily has other ways to enjoy life. She likes to watch baseball and Disney movies, especially the “Land Before Time” series. Sometimes she prefers listening to music on her iPod. Her favorite musician is Jack Johnson who did the soundtrack for the “Curious George” movie.

With assistance, she likes to go swimming and horseback riding. She also enjoys Brady, a Boxer-mutt the family got from an animal shelter after Lily's diagnosis. He's usually either lying at her feet or coming up and putting his head on her lap or licking her face. Mr. Courtney said with a lot of effort, Lily is sometimes able to reach out and put her hand on Brady.

“She wants to pat him, but she can't. Her brain can't tell her hand to do anything,” he said. “It's like she's kind of locked up in her body.”